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Rare Diseases under letter "D"
D-2-hydroxyglutaricaciduria ↗ DA1 ↗ DA10 ↗ DA1A ↗ Dacryocystitis - osteopoikilosis ↗ Dacryocystocele ↗ Daentl-Townsend-Siegel syndrome ↗ Dahlberg-Borer-Newcomer syndrome ↗ Daish-Hardman-Lamont syndrome ↗ DALD ↗ Dancing Eye syndrome ↗ Dandy Walker - facial hemangioma ↗ Dandy-Walker malformation - postaxial polydactyly ↗ Daneman-Davy-Mancer syndrome ↗ Danon disease ↗ Darier disease ↗ Darier-Gottron disease ↗ Darier-White disease ↗ Darling's disease ↗ Da Silva syndrome ↗ Davenport-Donlan syndrome ↗ David syndrome ↗ Davies disease ↗ Davis-Lafer syndrome ↗ Dawson's encephalitis ↗ DCM ↗ DCMA syndrome ↗ DCMD ↗ DDEB, Cockayne-Touraine type ↗ DDEB, Pasini and Cockayne-Touraine types ↗ DDEB, Pasini type ↗ DDON syndrome ↗ Deaf blind hypopigmentation syndrome, Yemenite type ↗ Deafness - cataracts - skeletal anomalies ↗ Deafness-craniofacial syndrome ↗ Deafness - dystonia - optic neuronopathy syndrome ↗ Deafness - ear malformation - facial palsy ↗ Deafness - enamel hypoplasia - nail defects ↗ Deafness - encephaloneuropathy - obesity - valvulopathy ↗ Deafness - epiphyseal dysplasia - short stature ↗ Deafness - genital anomalies - metacarpal and metatarsal synostosis ↗ Deafness - hypogonadism ↗ Deafness-infertility syndrome ↗ Deafness - intellectual deficit, Martin-Probst type ↗ Deafness - lymphedema - leukemia ↗ Deafness - nephritis - ano-rectal malformation ↗ Deafness - oligodontia ↗ Deafness - onychodystrophy - osteodystrophy - intellectual deficit ↗ Deafness - onycho-osteodystrophy - intellectual deficit ↗ Deafness - opticoacoustic nerve atrophy - dementia ↗ Deafness - peripheral neuropathy - arterial disease ↗ Deafness - pili torti - hypogonadism ↗ Deafness - skeletal dysplasia - lip granuloma ↗ Deafness - small bowel diverticulosis - neuropathy ↗ Deafness - symphalangism syndrome, Hermann type ↗ Deafness - thyroid hormone resistance ↗ Deafness - vitiligo - achalasia ↗ Deafness - white hair - contractures - papillomas ↗ Deafness with labyrinthine aplasia, microtia, and microdontia ↗ Deal-Barrat-Dillon syndrome ↗ De Barsy syndrome ↗ Deciduous skin ↗ de Die Smulders-Vles-Fryns syndrome ↗ Dedifferentiated liposarcoma ↗ Deep lattice corneal dystrophy ↗ Defective biosynthesis of proteodermatan sulfate ↗ Defective lysosomal release of vitamin B12 ↗ Deficiency of complement of terminal pathway ↗ Deficiency of short chain acyl-CoA dehydrogenase ↗ Déficit isolé en XOR ↗ Degos disease ↗ Degos genodermatosis "en cocardes" ↗ De Grouchy syndrome ↗ De Hauwere-Leroy-Adriaenssens syndrome ↗ Dehydratase deficiency ↗ Dehydrated hereditary stomatocytosis ↗ Dejerine-Sottas syndrome ↗ Dekaban-Arima syndrome ↗ Del(10)(q22.3q23.3) ↗ DEL11q23.3 ↗ DEL11q ter ↗ Del(12)(q14) ↗ Del(13)(q14) ↗ Del(13)(q34) ↗ Del(14)(q11.2) ↗ Del(14)(q12) ↗ Del(14)(q22q23) ↗ Del(15)(q11.2) ↗ Del(15)(q13.3) ↗ Del(15)(q14) ↗ Del(15)(q24) ↗ Del(16)(p11.2) ↗ Del(16)(p11.2p12.2) ↗ Del(16)(p13.11) ↗ Del(16)(q24.3) ↗ Del(17)(q11) ↗ Del(17)(q12) ↗ Del(17)(q21.31) ↗ Del(17)(q23.1q23.2) ↗ Del(19)(p13.12) ↗ Del(19)(q13.11) ↗ Del(1)(p36) ↗ Del(1)(q21) ↗ Del(1)(q41q42) ↗ Del(1)(q44) ↗ Del(20)(p12.3) ↗ Del(20)(q13.33) ↗ Del(21)(q22.11q22.12) ↗ Del(21)(q22.13q22.2) ↗ Del(2)(p15p16.1) ↗ Del(2)(p21) ↗ Del(2)(q23.1) ↗ Del(2)(q24) ↗ Del(2)(q31.1) ↗ Del(2)(q32) ↗ Del(2)(q32q33) ↗ Del(2)(q33.1) ↗ Del(2)(q37) ↗ Del(3)(q13) ↗ Del(3)(q29) ↗ Del(4)(q21) ↗ Del(5)(q14.3) ↗ Del(6)(p22) ↗ Del(6)(q16) ↗ Del(6)(q25) ↗ Del(7)(q31) ↗ Del(8)(p11.2) ↗ Del(8)(p23.1) ↗ De la Chapelle dysplasia ↗ De la Chapelle syndrome ↗ Delayed graft function after organ transplantation ↗ Delayed membranous cranial ossification ↗ Delayed speech - facial asymmetry - strabismus - ear lobe creases ↗ Deletion 10q22.3q23.3 ↗ Deletion 11p ↗ Deletion 11p13 ↗ Deletion 12q14 ↗ Deletion 13q14 syndrome ↗ Deletion 13q32 ↗ Délétion 13q32 ↗ Deletion 14qter ↗ Deletion 18q ↗ Deletion 1p36 ↗ Deletion 1pter ↗ Deletion 20p ↗ Deletion 2q37 ↗ Deletion 2q37-qter ↗ Deletion 3q27 ↗ Deletion 4q ↗ Deletion 5p ↗ Deletion 6q16 syndrome ↗ Deletion 7q11.23 ↗ Deletion 8q24.1 ↗ Delleman-Oorthuys syndrome ↗ Delleman syndrome ↗ Delta1-pyrroline-5-carboxylate dehydrogenase deficiency ↗ Delta-1-pyrroline 5-carboxylate synthetase deficiency ↗ Delta-beta thalassemia ↗ Delta-sarcoglycanopathy ↗ Del(X)(p21) ↗ Dementia Infantilis ↗ Dementia pugilistica ↗ Demodicidosis ↗ De Morsier syndrome ↗ Dendritic cell sarcoma not otherwise specified ↗ DEND syndrome ↗ Dengue ↗ Dennis-Cohen syndrome ↗ Dennis-Fairhurst-Moore syndrome ↗ Dental ankylosis ↗ Dentatorubral-pallidoluysian atrophy ↗ Dent disease ↗ Dent disease type 1 ↗ Dent disease type 2 ↗ Dentin dysplasia ↗ Dentin dysplasia - sclerotic bones ↗ Dentin dysplasia type I ↗ Dentin dysplasia type II ↗ Dentinogenesis imperfecta ↗ Dentinogenesis imperfecta , Shields type 2 ↗ Dentinogenesis imperfecta , Shields type 3 ↗ Dentinogenesis imperfecta - short stature - hearing loss - intellectual deficit ↗ Dentinogenesis imperfecta type 2 ↗ Dentinogenesis imperfecta type 3 ↗ Dentoleukoencephalopathy ↗ Dent syndrome ↗ Denys-Drash syndrome ↗ der(22)t(11;22) syndrome ↗ D'Ercole syndrome ↗ Dercum's disease ↗ Der Kaloustian-Jarudi-Khoury syndrome ↗ Der Kaloustian-McIntosh-Silver syndrome ↗ Dermatitis herpetiformis ↗ Dermato-cardio-skeletal syndrome, Borrone type ↗ Dermatofibrosarcoma protuberans ↗ Dermatoleukodystrophy ↗ Dermatomyositis ↗ Dermatoosteolysis, Kirghizian type ↗ Dermatopathia pigmentosa reticularis ↗ Dermatostomatitis, Stevens Johnson type ↗ Dermochondrocorneal dystrophy ↗ Dermoid cyst of the face ↗ Dermoid cyst of the neck ↗ Dermolytic epidermolysis bullosa ↗ Dermo-odonto dysplasia ↗ De Sanctis-Cacchione syndrome ↗ Desbuquois syndrome ↗ DESC syndrome ↗ DES embryofetopathy ↗ Desert fever ↗ Desert rheumatism ↗ De Smet-Fabry-Fryns syndrome ↗ Desminopathy ↗ Desmin-related myofibrillar myopathy ↗ Desmin-related myopathy with Mallory body-like inclusions ↗ Desmoid disease ↗ Desmoplastic infantile astrocytoma/ganglioglioma ↗ Desmoplastic/nodular medulloblastoma ↗ Desmoplastic small round cell tumor ↗ Desmosterolosis ↗ Desquamative interstitial pneumonia ↗ DES syndrome ↗ De Vaal disease ↗ Devastating Epileptic encephalopathy in School-age Children ↗ Developmental delay - choreoathetosis - joint dislocation - lax skin ↗ Developmental delay - deafness, Hildebrand type ↗ Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency ↗ Developmental delay - epilepsy - neonatal diabetes ↗ Developmental delay - hypotonia - extremities hypertrophy ↗ Developmental malformations - deafness - dystonia ↗ Developmental verbal dyspraxia ↗ Devic's disease ↗ De Vivo disease ↗ Devriendt-Legius-Fryns syndrome ↗ Devriendt-Vandenberghe-Fryns syndrome ↗ Dexamethasone sensitive hypertension ↗ Dextrocardia ↗ Dextrocardia - bronchiectasis - sinusitis ↗ DFSP ↗ D-glycerate dehydrogenase deficiency ↗ D-glycerate kinase deficiency ↗ D-glycericacidemia ↗ DGSX ↗ DHRD ↗ D-HUS ↗ D+HUS ↗ Diabetes - hypogonadism - deafness - intellectual deficit ↗ Diabetes Insipidus - Diabetes Mellitus - Optic Atrophy - Deafness ↗ Diabetic embryopathy ↗ DIA/DIG ↗ Dialysis-related arthropathy ↗ Dianzani autoimmune lymphoproliferative disease ↗ Diaphanospondylodysostosis ↗ Diaphorase deficiency ↗ Diaphragmatic agenesia ↗ Diaphragmatic defect - limb deficiency - skull defect ↗ Diaphragmatic hernia - abnormal face - distal limb anomalies ↗ Diaphragmatic spinal muscular atrophy ↗ Diaphyseal dysplasia - anemia ↗ Diaphyseal medullary stenosis - bone malignancy ↗ Diaphyseal medullary stenosis - malignant fibrous histiocytoma ↗ Diarrhea-vomiting due to trehalase deficiency ↗ Diastematomyelia ↗ Diastrophic dwarfism ↗ Diastrophic dysplasia ↗ Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency ↗ Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency ↗ Dicarboxylicaminoaciduria ↗ DI-CMT ↗ Didelphys uterus ↗ DIDMOAD syndrome ↗ Diencephalic syndrome ↗ Diethylstilbestrol embryofetopathy ↗ Diethylstilbestrol syndrome ↗ Diffuse alveolar hemorrhage ↗ Diffuse angiokeratoma ↗ Diffuse astrocytoma ↗ Diffuse cutaneous mastocytosis ↗ Diffuse cutaneous systemic scleroderma ↗ Diffuse cutaneous systemic sclerosis ↗ Diffuse cystic angiomatosis of bone ↗ Diffuse familial brain sclerosis ↗ Diffuse fasciitis with eosinophilia ↗ Diffuse large B-cell lymphoma ↗ Diffuse leptomeningeal melanocytosis ↗ Diffuse Lewy body disease ↗ Diffuse lymphangioma ↗ Diffuse lymphangiomatosis ↗ Diffuse lymphatic malformation ↗ Diffuse malignant peritoneal mesothelioma ↗ Diffuse neonatal hemangiomatosis ↗ Diffuse palmoplantar keratoderma - acrocyanosis ↗ Diffuse palmoplantar keratoderma, Botnie type ↗ Diffuse panbronchiolitis ↗ Diffuse peritoneal leiomyomatosis ↗ DiGeorge sequence ↗ DiGeorge syndrome ↗ Digestive duplication ↗ Digestive duplication cyst of the tongue ↗ Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum ↗ Digitalis poisoning ↗ Digitorenocerebral syndrome ↗ Digitotalar dysmorphism ↗ Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency ↗ Dihydrolipoamide dehydrogenase-binding protein of pyruvate dehydrogenase complex ↗ Dihydrolipoamide dehydrogenase deficiency ↗ Dihydrolipoyl dehydrogenasee deficiency ↗ Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency ↗ Dihydropteridine reductase deficiency ↗ Dihydropyrimidinase deficiency ↗ Dihydropyrimidine dehydrogenase deficiency ↗ Dihydropyrimidinuria ↗ Dilatation of the left appendage ↗ Dilatation of the left auricle ↗ Dilatation of the right atrial appendage ↗ Dilatation of the right atrial auricle ↗ Dilated cardiomyopathy - hypergonadotropic hypogonadism ↗ Dilated cardiomyopathy with ataxia ↗ DILE ↗ Dimethylglycine dehydrogenase deficiency ↗ Dincsoy-Salih-Patel syndrome ↗ Dinno-Shearer-Weisskopf syndrome ↗ Diomedi-Bernardi-Placidi syndrome ↗ Dionisi-Vici-Sabetta-Gambarara syndrome ↗ Diphallia ↗ Diphtheria ↗ Diprosopia ↗ Dipygus ↗ DIRA ↗ Dirofilariasis ↗ DIS ↗ Disaccharide intolerance ↗ Discoid lupus erythematosus ↗ Discordant ventriculoarterial and atrioventricular connections ↗ Discrete fibromuscular subaortic stenosis ↗ Discrete fixed membranous subaortic stenosis ↗ Discrete papular lichen myxedematosus ↗ Disease-associated transverse myelitis ↗ disembarkment syndrome ↗ Dislocation of the hip - dysmorphism ↗ Disomy Y ↗ Disorder in the hormonal synthesis with or without goiter ↗ Disorder of sex development - intellectual deficit ↗ Dissecting cellulitis of the scalp ↗ Disseminated aseptic abscesses ↗ Disseminated dermatofibrosis with osteopoikilosis ↗ Disseminated lympangioma ↗ Disseminated lymphangiomatosis ↗ Disseminated lymphatic malformation ↗ Disseminated nevus anelasticus ↗ Disseminated peritoneal leiomyomatosis ↗ Disseminated superficial actinic porokeratosis ↗ Disseminated superficial actinic porokeratosis type 1 ↗ Disseminated superficial actinic porokeratosis type 2 ↗ Distal 10p deletion ↗ Distal 13q deletion ↗ Distal 15q deletion ↗ Distal 16p11.2 microdeletion syndrome ↗ Distal 17p13.3 microdeletion syndrome ↗ Distal 17q deletion ↗ Distal 22q11.2 microdeletion syndrome ↗ Distal 22q11.2 microduplication syndrome ↗ Distal 3p deletion ↗ Distal 5q deletion ↗ Distal 7q11.23 microdeletion syndrome ↗ Distal 7q11.23 microduplication syndrome ↗ Distal anterior compartment myopathy ↗ Distal arthrogryposis type 1 ↗ Distal arthrogryposis type 10 ↗ Distal arthrogryposis type 2A ↗ Distal Arthrogryposis type 2B ↗ Distal arthrogryposis type 3 ↗ Distal arthrogryposis type 4 ↗ Distal arthrogryposis type 5 ↗ Distal arthrogryposis type 6 ↗ Distal arthrogryposis type 7 ↗ Distal arthrogryposis type 8 ↗ Distal arthrogryposis type 9 ↗ Distal arthrogryposis type IIA ↗ Distal arthrogryposis type IIB ↗ Distal arthrogryposis type IID ↗ Distal del(16)(p11.2) ↗ Distal del(17)(p13.3) ↗ Distal del(22)(q11.2) ↗ Distal del(7)(q11.23) ↗ Distal deletion 10q ↗ Distal deletion 11q ↗ Distal deletion 12p ↗ Distal deletion 12q ↗ Distal deletion 13q34 ↗ Distal deletion 14q ↗ Distal deletion 16p ↗ Distal deletion 19p ↗ Distal deletion 1q ↗ Distal deletion 20q ↗ Distal deletion 4p ↗ Distal deletion 4q ↗ Distal deletion 6p ↗ Distal deletion 7p ↗ Distal deletion 7q36 ↗ Distal deletion 8p ↗ Distal deletion 9p ↗ Distal dup(22)(q11.2) ↗ Distal dup(7)(q11.23) ↗ Distal duplication 10q ↗ Distal duplication 11q ↗ Distal duplication 13q ↗ Distal duplication 14q ↗ Distal duplication 15q ↗ Distal duplication 16p ↗ Distal duplication 16q ↗ Distal duplication 17q ↗ Distal duplication 18q ↗ Distal duplication 19q ↗ Distal duplication 1p36 ↗ Distal duplication 20q ↗ Distal duplication 22q ↗ Distal duplication 2p ↗ Distal duplication 2q ↗ Distal duplication 3p ↗ Distal duplication 4p ↗ Distal duplication 4q ↗ Distal duplication 5q ↗ Distal duplication 6p ↗ Distal duplication 6q ↗ Distal duplication 7p ↗ Distal duplication 8q ↗ Distal duplication 9q ↗ Distal duplication Xq ↗ Distal hereditary motor neuropathy ↗ Distal hereditary motor neuropathy, Jerash type ↗ Distal hereditary motor neuropathy type 1 ↗ Distal hereditary motor neuropathy type 2 ↗ Distal hereditary motor neuropathy type 3 and type 4 ↗ Distal hereditary motor neuropathy type 5 ↗ Distal hereditary motor neuropathy type 5B ↗ Distal hereditary motor neuropathy type 6 ↗ Distal hereditary motor neuropathy type 7 ↗ Distal-HMN-1 ↗ Distal-HMN-2 ↗ Distal-HMN-3 and Distal-HMN-4 ↗ Distal-HMN-5 ↗ Distal-HMN-7 ↗ Distal HMN-J ↗ Distal-HMN type 6 ↗ Distal limb deficiencies - micrognathia syndrome ↗ Distal monosomy 10p ↗ Distal monosomy 10q ↗ Distal monosomy 11q ↗ Distal monosomy 12p ↗ Distal monosomy 12q ↗ Distal monosomy 13q ↗ Distal monosomy 14q ↗ Distal monosomy 15q ↗ Distal monosomy 16p ↗ Distal monosomy 16p11.2 ↗ Distal monosomy 17p13.3 ↗ Distal monosomy 17q ↗ Distal monosomy 19p13.3 ↗ Distal monosomy 1q ↗ Distal monosomy 20q ↗ Distal monosomy 22q11.2 ↗ Distal monosomy 3p ↗ Distal monosomy 4p ↗ Distal monosomy 4q ↗ Distal monosomy 5q ↗ Distal monosomy 6p ↗ Distal monosomy 7p ↗ Distal monosomy 7q11.23 ↗ Distal monosomy 7q36 ↗ Distal monosomy 8p ↗ Distal monosomy 9p ↗ Distal myopathy, Markesbery-Griggs type ↗ Distal myopathy, Nonaka type ↗ Distal myopathy, Swedish type ↗ Distal myopathy type 1 ↗ Distal myopathy, Udd type ↗ Distal myopathy, Welander type ↗ Distal myopathy with anterior tibial onset ↗ Distal myopathy with early respiratory muscle involvement ↗ Distal myopathy with posterior leg and anterior upper limb involvement ↗ Distal myopathy with rimmed vacuoles ↗ Distal myopathy with vocal cord weakness ↗ Distal obstructive uropathy - polydactyly ↗ Distal osteolysis - short stature - intellectual deficit ↗ Distal renal tubular acidosis ↗ Distal spinal muscular atrophy type 2 ↗ Distal spinal muscular atrophy type 5 ↗ Distal spinal muscular atrophy with vocal cord paralysis ↗ Distal symphalangism ↗ Distal trisomy 10q ↗ Distal trisomy 11q ↗ Distal trisomy 13q ↗ Distal trisomy 14q ↗ Distal trisomy 15q ↗ Distal trisomy 16p ↗ Distal trisomy 16q ↗ Distal trisomy 17q ↗ Distal trisomy 18q ↗ Distal trisomy 19q ↗ Distal trisomy 1p36 ↗ Distal trisomy 20q ↗ Distal trisomy 22q ↗ Distal trisomy 22q11.2 ↗ Distal trisomy 2p ↗ Distal trisomy 2q ↗ Distal trisomy 3p ↗ Distal trisomy 4p ↗ Distal trisomy 4q ↗ Distal trisomy 5q ↗ Distal trisomy 6p ↗ Distal trisomy 6q ↗ Distal trisomy 7p ↗ Distal trisomy 7q11.23 ↗ Distal trisomy 8q ↗ Distal trisomy 9q ↗ Distichiasis - congenital heart defects - peripheral vascular anomalies ↗ Distilbene embryofetopathy ↗ Distomatosis ↗ DKC ↗ DK phocomelia syndrome ↗ DLM ↗ DM ↗ DM1 ↗ DMD ↗ DMG dehydrogenase deficiency ↗ DMGDH deficiency ↗ DNET ↗ DNT of the cerebellum ↗ DOA+ ↗ Dolicospondylic dysplasia ↗ Dominant beta-thalassemia ↗ Dominant deafness-onychodystrophy ↗ Dominant drusen ↗ Dominant hyaloideoretinal dystrophy of Wagner ↗ Dominant hypophosphatemia with nephrolithiasis or osteoporosis ↗ Dominant radial drusen ↗ Donath-Landsteiner hemolytic anemia ↗ Donath-Landsteiner syndrome ↗ Donnai-Barrow syndrome ↗ Donohue syndrome ↗ DOOR syndrome ↗ Doose syndrome ↗ Dopamine beta-hydroxylase deficiency ↗ Dopa-responsive dystonia ↗ Dopa responsive dystonia due to sepiapterin reductase deficiency ↗ Dorfman-Chanarin disease ↗ DORV ↗ DORV, Fallot type ↗ Double discordance ↗ Double inlet left ventricle ↗ Double nose ↗ Double-orifice mitral valve ↗ Double outlet left ventricle ↗ Double outlet right ventricle ↗ Double outlet right ventricle, Fallot type ↗ Double outlet right ventricle with doubly committed ventricular septal defect ↗ Double outlet right ventricle with non-committed subpulmonary ventricular septal defect ↗ Double outlet right ventricle with subaortic ventricular septal defect ↗ Double outlet right ventricle with subpulmonary ventricular septal defect ↗ Double tachycardia induced by catecholamines ↗ Double uterus - hemivagina - renal agenesis ↗ Double y ↗ Dowling-Degos disease ↗ Down syndrome ↗ Doyne honeycomb retinal dystrophy ↗ DPL ↗ Dracunculiasis ↗ Drash syndrome ↗ Dravet syndrome ↗ Dream disease ↗ DRESS syndrome ↗ DRPLA ↗ DRS ↗ DRS ↗ Drug-induced AIHA ↗ Drug-induced autoimmune hemolytic anemia ↗ Drug-induced localized lipodystrophy ↗ Drug-induced lupus erythematosus ↗ Drug rash with eosinophilia and systemic symptoms ↗ Drummond syndrome ↗ DSRCT ↗ DTDP1 ↗ DTDP2 ↗ Duane anomaly - myopathy - scoliosis ↗ Duane-radial ray syndrome ↗ Duane-radial ray syndrome due to a point mutation ↗ Duane-radial ray syndrome due to monosomy 20q13 ↗ Duane retraction syndrome ↗ Duane syndrome ↗ Dubin-Johnson syndrome ↗ Dubin-Sprinz disease ↗ Dubowitz syndrome ↗ Duchenne and Becker muscular dystrophy ↗ Duchenne muscular dystrophy ↗ Duct-centric pancreatitis ↗ Duncan disease ↗ Dunnigan syndrome ↗ Duodenal and extrahepatic biliary atresia - hypoplastic pancreas - intestinal malrotation ↗ Duodenal atresia ↗ Dup(10)(q22.3q23.3) ↗ Dup(14)(q11.2) ↗ Dup(15)(q11q13) ↗ Dup(16)(p11.2) ↗ Dup(16)(p13.11) ↗ Dup(17p) ↗ Dup(17)(p13.3) ↗ Dup(17)(q11.2) ↗ Dup(17)(q12) ↗ Dup(17)(q21.31) ↗ Dup(1)(q21.1) ↗ Dup(20p) ↗ Dup22q11 ↗ Dup(3)(q26) ↗ Dup(5)(q35) ↗ Dup(7)(q11.23) ↗ Dup(8)(p23.1) ↗ Dup(8)(q12) ↗ Du Pan syndrome ↗ Duplication 18p ↗ Duplication 1q ↗ Duplication 22q11.2 ↗ Duplication 4p ↗ Duplication 4q ↗ Duplication 5p ↗ Duplication 8p ↗ Duplication 8q ↗ Duplication 8q/deletion 8p ↗ Duplication 9p ↗ Duplication/inversion 15q11 ↗ Duplication of the esophagus ↗ Duplication of urethra ↗ Dup(X)(q27.3q28) ↗ Dural sinus malformation ↗ Durhing-Brocq disease ↗ Dursun syndrome ↗ Dwarfism - intellectual deficit - eye abnormality ↗ Dwarfism - stiff joint - ocular abnormalities ↗ Dwarfism - tall vertebrae ↗ Dyggve-Melchior-Clausen disease ↗ Dykes-Markes-Harper syndrome ↗ Dyschondrosteosis - nephritis ↗ Dyschromatosis symmetrica hereditaria ↗ Dyschromatosis universalis ↗ Dysembryoplastic neuroepithelial tumor ↗ Dysembryoplastic neuroepithelial tumor of the cerebellum ↗ Dysequilibrium syndrome ↗ Dyserythropoietic anemia with thrombocytopenia ↗ Dysgerminoma ↗ Dysgerminomatous germ cell cancer ↗ Dysharmonic skeletal maturation - muscular fibre disproportion ↗ Dyskeratosis congenita ↗ Dysmorphism - arthrogryposis - advanced skeletal maturation ↗ Dysmorphism - cleft palate - loose skin ↗ Dysmorphism - multiple structural anomalies ↗ Dysmorphism - pectus carinatum - joint laxity ↗ Dysmorphism - short stature - deafness - disorder of sex development ↗ Dysmorphism - short stature - deafness - pseudohermaphroditism ↗ Dysosteosclerosis ↗ Dysostosis enchondralis metaepiphysaria, Catel-Hempel type ↗ Dysostosis, Stanescu type ↗ Dysphagia lusoria ↗ Dysplasia epiphysealis hemimelica ↗ Dysplasia of head of femur, Meyer type ↗ Dysplastic cortical hyperostosis ↗ Dysplastic gangliocytoma of the cerebellum ↗ Dysprothrombinemia ↗ Dysraphism - cleft lip/palate - limb reduction defects ↗ Dyssegmental dysplasia - glaucoma ↗ Dyssegmental dysplasia, Rolland-Desbuquois type ↗ Dyssegmental dysplasia, Silverman-Handmaker type ↗ Dysspondyloenchondromatosis ↗ Dystonia 12 ↗ Dystonia 14 ↗ Dystonia 16 ↗ Dystonia 18 ↗ Dystonia musculorum deformans ↗ Dystonia-parkinsonism, Paisan-Ruiz type ↗ Dystrophic epidermolysis bullosa ↗ Dystrophic epidermolysis bullosa inversa ↗ DYT1 ↗ DYT11 ↗ DYT12 ↗ DYT13 ↗ DYT14 ↗ DYT15 ↗ DYT16 ↗ DYT18 ↗ DYT2 ↗ DYT3 ↗ DYT4 ↗ DYT5 ↗ DYT5a ↗ DYT6 ↗ DYT7 ↗ DYT9 ↗